Incidental Mutation 'IGL01629:Cdc5l'
| ID |
92876 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdc5l
|
| Ensembl Gene |
ENSMUSG00000023932 |
| Gene Name |
cell division cycle 5-like |
| Synonyms |
1200002I02Rik, PCDC5RP |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL01629
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
45702809-45744633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 45724116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 391
(D391E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024727]
|
| AlphaFold |
Q6A068 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024727
AA Change: D391E
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
AA Change: D391E
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
7 |
56 |
4.41e-15 |
SMART |
|
SANT
|
59 |
106 |
6.29e-11 |
SMART |
|
coiled coil region
|
150 |
181 |
N/A |
INTRINSIC |
|
Blast:SANT
|
187 |
233 |
5e-23 |
BLAST |
|
low complexity region
|
258 |
271 |
N/A |
INTRINSIC |
|
Pfam:Myb_Cef
|
404 |
655 |
3.1e-85 |
PFAM |
|
low complexity region
|
706 |
718 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
802 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
| Adm2 |
T |
A |
15: 89,207,605 (GRCm39) |
|
probably null |
Het |
| Alox12 |
G |
A |
11: 70,133,660 (GRCm39) |
P555S |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,433,113 (GRCm39) |
S1798P |
probably damaging |
Het |
| Amfr |
T |
A |
8: 94,714,136 (GRCm39) |
|
probably null |
Het |
| Arhgef18 |
T |
A |
8: 3,431,942 (GRCm39) |
C168S |
possibly damaging |
Het |
| Atxn7l3 |
A |
T |
11: 102,183,320 (GRCm39) |
|
probably benign |
Het |
| Ccdc191 |
A |
G |
16: 43,779,663 (GRCm39) |
K707E |
possibly damaging |
Het |
| Cmtm2b |
T |
C |
8: 105,056,420 (GRCm39) |
S110P |
possibly damaging |
Het |
| Cyp2j8 |
T |
C |
4: 96,387,840 (GRCm39) |
D207G |
probably damaging |
Het |
| Ddhd2 |
A |
G |
8: 26,225,855 (GRCm39) |
F501L |
possibly damaging |
Het |
| Dnaaf6rt |
T |
A |
1: 31,262,014 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
C |
T |
14: 31,014,277 (GRCm39) |
V1823M |
probably damaging |
Het |
| Gjb4 |
T |
C |
4: 127,245,419 (GRCm39) |
D174G |
possibly damaging |
Het |
| Gm45213 |
A |
G |
7: 65,711,962 (GRCm39) |
D58G |
probably damaging |
Het |
| Hes1 |
C |
T |
16: 29,884,976 (GRCm39) |
|
probably benign |
Het |
| Krt33b |
T |
A |
11: 99,920,386 (GRCm39) |
Q89L |
probably benign |
Het |
| Llcfc1 |
C |
A |
6: 41,661,459 (GRCm39) |
S3Y |
possibly damaging |
Het |
| Ltf |
A |
G |
9: 110,864,874 (GRCm39) |
N569S |
probably damaging |
Het |
| Mknk1 |
T |
A |
4: 115,732,731 (GRCm39) |
W320R |
probably damaging |
Het |
| Mrgprx3-ps |
T |
A |
7: 46,959,353 (GRCm39) |
K213* |
probably null |
Het |
| Mslnl |
T |
G |
17: 25,963,749 (GRCm39) |
V388G |
possibly damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,307,228 (GRCm39) |
I566V |
probably benign |
Het |
| Npy1r |
G |
A |
8: 67,156,873 (GRCm39) |
V98I |
probably benign |
Het |
| Phf1 |
G |
T |
17: 27,153,247 (GRCm39) |
A22S |
probably benign |
Het |
| Plcg1 |
T |
G |
2: 160,599,930 (GRCm39) |
F897V |
possibly damaging |
Het |
| Ric1 |
A |
T |
19: 29,581,381 (GRCm39) |
E1367D |
probably benign |
Het |
| Slc24a3 |
T |
C |
2: 145,482,130 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,968,565 (GRCm39) |
|
probably null |
Het |
| Speer4a2 |
C |
T |
5: 26,290,700 (GRCm39) |
S157N |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,129,677 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,051,377 (GRCm39) |
I4036V |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,429,030 (GRCm39) |
M890K |
possibly damaging |
Het |
| Tenm2 |
A |
T |
11: 36,755,711 (GRCm39) |
Y96N |
probably damaging |
Het |
| Ttll10 |
T |
A |
4: 156,131,351 (GRCm39) |
T233S |
probably benign |
Het |
| Vps39 |
G |
T |
2: 120,154,079 (GRCm39) |
L628M |
probably benign |
Het |
| Zfp563 |
G |
A |
17: 33,323,600 (GRCm39) |
R105H |
probably damaging |
Het |
|
| Other mutations in Cdc5l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01589:Cdc5l
|
APN |
17 |
45,715,602 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02596:Cdc5l
|
APN |
17 |
45,735,530 (GRCm39) |
splice site |
probably benign |
|
|
IGL02973:Cdc5l
|
APN |
17 |
45,715,573 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL03102:Cdc5l
|
APN |
17 |
45,718,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03113:Cdc5l
|
APN |
17 |
45,744,348 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0255:Cdc5l
|
UTSW |
17 |
45,726,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0333:Cdc5l
|
UTSW |
17 |
45,704,142 (GRCm39) |
splice site |
probably benign |
|
|
R0432:Cdc5l
|
UTSW |
17 |
45,726,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Cdc5l
|
UTSW |
17 |
45,726,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Cdc5l
|
UTSW |
17 |
45,726,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0839:Cdc5l
|
UTSW |
17 |
45,704,073 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1462:Cdc5l
|
UTSW |
17 |
45,719,288 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1462:Cdc5l
|
UTSW |
17 |
45,719,288 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1483:Cdc5l
|
UTSW |
17 |
45,719,290 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1634:Cdc5l
|
UTSW |
17 |
45,715,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1751:Cdc5l
|
UTSW |
17 |
45,718,731 (GRCm39) |
missense |
probably benign |
|
|
R1954:Cdc5l
|
UTSW |
17 |
45,737,442 (GRCm39) |
splice site |
probably null |
|
|
R1955:Cdc5l
|
UTSW |
17 |
45,737,442 (GRCm39) |
splice site |
probably null |
|
|
R2197:Cdc5l
|
UTSW |
17 |
45,718,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2229:Cdc5l
|
UTSW |
17 |
45,718,772 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4060:Cdc5l
|
UTSW |
17 |
45,721,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4061:Cdc5l
|
UTSW |
17 |
45,721,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4064:Cdc5l
|
UTSW |
17 |
45,721,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4172:Cdc5l
|
UTSW |
17 |
45,730,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4334:Cdc5l
|
UTSW |
17 |
45,721,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5093:Cdc5l
|
UTSW |
17 |
45,703,967 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5268:Cdc5l
|
UTSW |
17 |
45,726,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5729:Cdc5l
|
UTSW |
17 |
45,737,495 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6190:Cdc5l
|
UTSW |
17 |
45,718,943 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6462:Cdc5l
|
UTSW |
17 |
45,703,975 (GRCm39) |
missense |
probably benign |
|
|
R6540:Cdc5l
|
UTSW |
17 |
45,737,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7232:Cdc5l
|
UTSW |
17 |
45,738,863 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7381:Cdc5l
|
UTSW |
17 |
45,722,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7589:Cdc5l
|
UTSW |
17 |
45,721,707 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8120:Cdc5l
|
UTSW |
17 |
45,718,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8424:Cdc5l
|
UTSW |
17 |
45,726,526 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8495:Cdc5l
|
UTSW |
17 |
45,737,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8875:Cdc5l
|
UTSW |
17 |
45,703,915 (GRCm39) |
splice site |
probably benign |
|
|
R8884:Cdc5l
|
UTSW |
17 |
45,744,467 (GRCm39) |
start gained |
probably benign |
|
|
R8927:Cdc5l
|
UTSW |
17 |
45,721,839 (GRCm39) |
missense |
|
|
|
R8928:Cdc5l
|
UTSW |
17 |
45,721,839 (GRCm39) |
missense |
|
|
|
R8958:Cdc5l
|
UTSW |
17 |
45,704,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8974:Cdc5l
|
UTSW |
17 |
45,715,621 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9259:Cdc5l
|
UTSW |
17 |
45,736,817 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9622:Cdc5l
|
UTSW |
17 |
45,715,709 (GRCm39) |
missense |
probably benign |
|
|
R9716:Cdc5l
|
UTSW |
17 |
45,744,500 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation